Associated Papers
An Unusual Cause of Hexokinase 1 Deficiency-Case Report.
Kilich G et al.
Ejhaem, 2025
Biallelic hexokinase 1 (HK1) variants causative of non-spherocytic haemolytic anaemia: A case series with emphasis on the HK1 promoter variant and literature review.
Ukonmaanaho EM et al.
British Journal of Haematology, 2024
Novel pathogenic variant c.2714C>A (p. Thr905Lys) in the HK1 gene causing severe haemolytic anaemia with developmental delay in an Indian family.
Dongerdiye R et al.
Journal of Clinical Pathology, 2021
De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment.
Okur V et al.
European Journal of Human Genetics : Ejhg, 2019
Molecular characterization of six new cases of red blood cell hexokinase deficiency yields four novel mutations in HK1.
Koralkova P et al.
Blood Cells, Molecules & Diseases, 2016
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_
HK Utrecht: missense mutation in the active site of human hexokinase associated with hexokinase deficiency and severe nonspherocytic hemolytic anemia.
van Wijk R et al.
Blood, 2003
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